Varaico: Literature-Extracted Genetic Variants

Gene:PERP
Variant:p.L30P

PERP

58 papers

Pfam Domains

PMP22_Claudinaa 14–169UCSCPMP-22/EMP/MP20/Claudin family

Gene Aliases

HGNC Name

p53 apoptosis effector related to PMP22

HGNC Alias Symbols

PIGPC1; dJ496H19.1; KCP1; THW; KRTCAP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_022121.5
p.L30P
c.89T>C
Surrounding Variants
1 paper
NM_022121.5
p.A29G
c.86C>G
1 paper
NM_022121.5
p.D26E
c.78C>G
1 paper
NM_022121.5
p.D26E
c.78C>A
1 paper
NM_022121.5
p.A24V
c.71C>T
4 papers
NM_022121.5
p.S38fs
c.112_113fs
1 paper
NM_022121.5
p.A22G
c.65C>G
2 papers
NM_022121.5
p.S38delFs
c.112delA
1 paper
NM_022121.5
p.S39S
c.117C>T
1 paper
NM_022121.5
p.G42V
c.125G>T
1 paper
NM_022121.5
p.T44R
c.131C>G
1 paper
NM_022121.5
p.S46*
c.137C>A
1 paper
NM_022121.5
p.W49*
c.146G>A
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